COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30; COXPD30

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30; COXPD30?

Accepted Answer

rare
autosomal recessive
mutation in the TRMT10C gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 30

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616974

Question 4

Which enzymes are involved?

Accepted Answer

tRNA methyltransferase 10 homolog C

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30; COXPD30
OMIM	616974 OMIM = Online Mendelian Inheritance of Men
Orphanet	478042
Protein (UniProt)	tRNA methyltransferase 10 homolog C
Gene locus	3q12.3
ICD
Summary	rare autosomal recessive mutation in the TRMT10C gene
Laboratory findings	Alanine inc (plasma) L-Lactic acid inc (plasma) L-Lactic acid inc (cerebrospinal fluid) Transaminases (ASAT/ALAT) inc (serum)
Symptoms	early death failure to thrive feeding difficulties, poor feeding hearing defect, deafness heart involvement hypotonia lactic acidosis liver involvement or dysfunction onset, neonatal respiratory insufficiency